Study Related Publications

Alter BP: Modern review of congenital hypoplastic anemia. Journal of Pediatric Hematology/Oncology 23:383-384, 2001.

Elghetany MT, Alter BP: p53 protein overexpression in bone marrows of patients with Shwachman-Diamond Syndrome has a prevalence similar to that of patients with refractory anemia. Archives of Pathology and Laboratory Medicine 126:452-455, 2002.

Alter BP: Radiosensitivity in Fanconi’s anemia patients. Radiotherapy and Oncology 62: 345-347, 2002.

Freedman MH and Alter BP: Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Seminars in Hematology 39:128-133, 2002.

Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T: Shwachman-Diamond Syndrome: report from an international conference. Journal of Pediatrics 141:266-270, 2002.

Alter BP, Lipton JM: Bone marrow failure syndromes. In: Rudolph's Pediatrics, 21st edition, Appleton Lange, Norwalk, CT, 2003, pp 1562-1567.

Elghetany MT and Alter BP: P53 Protein overexpression in Shwachman-Diamond Syndrome, reply. Archives of Pathology and Laboratory Medicine 126:1158, 2002.

Alter BP: Bone marrow failure syndromes in children. Pediatric Clinics of North America 49:973-988, 2002.

Freedman MH, Alter BP: Malignant myeloid transformation in congenital forms of neutropenia. Israeli Medical Association Journal 4:1011-1014, 2002.

Alter BP: Cancer in Fanconi Anemia, 1927-2001. Cancer 97:425-440, 2003.

Rosenberg PS, Greene MH, Alter BP: Cancer Incidence in persons with Fanconi Anemia. Blood 101:822-826, 2003.

Alter BP: Inherited bone marrow failure syndromes. In: Nathan and Oski's Hematology of Infancy and Childhood, sixth edition, DG Nathan, SH Orkin, AT Look, D Ginsburg, eds, WB Saunders Inc, Philadelphia, 2003, pp 280-365.

Alter BP and Elghetany MT: The CCC System – is it really the answer to pediatric MDS? Journal of Pediatric Hematology/Oncology 25: 426-427, 2003 (letter).

Rosenberg PS, Huang Y, Alter BP: Individualized risk of adverse events in Fanconi Anemia (FA). Blood 104: 350-355, 2004.

Alter BP: Growth hormone and the risk of malignancy. Pediatric Blood & Cancer 43:534-535, 2004.

Velazquez I, Alter BP: Androgens and liver tumors: Fanconi's Anemia and non-Fanconi's Conditions. American Journal of Hematology 77:257-267, 2004.

Rosenberg PS, Socié G, Alter BP, Gluckman E: Risk of head and neck squamous cell cancer and death in patients with Fanconi Anemia who did and did not receive transplants. Blood 105: 67-73, 2005.

Alter BP: Diamond-Blackfan Anemia: A "Cultural" Diagnosis. Blood 105: 435-436, 2005.

Alter BP, Joenje H, Oostra AB, Pals G: Fanconi Anemia: Adult Head and Neck Cancer and Hematopoietic Mosaicism. Archives of Otolaryngology-Head & Neck Surgery 131:635-639, 2005.

Rosenberg PS, Alter BP, Socié G, Gluckman E: Secular Trends in Outcomes for Fanconi Anemia Patients Who Receive Transplants: Implications for Future Studies. Biology of Blood and Marrow Transplantation 11:672-679, 2005.

Alter BP: Fanconi’s Anemia, transplantation, and cancer. Pediatric Transplantation 9 (Suppl. 7): 81-86, 2005.

Alter BP: The Association between FANCD1/BRCA2 Mutations and Leukemia. British Journal of Haematology 133:446-448, 2006.

Braun M, Giri N, Alter BP and Cowen EW: Thrombocytopenia, multiple mucosal squamous cell cancers, and dyspigmentation. Journal of the American Academy of Dermatology 54:1056-1059, 2006.

Al-Rahawan MM, Giri N, Alter BP: Intensive immunosuppression therapy for aplastic anemia associated with Dyskeratosis Congenita. International Journal of Hematology 83:275-276, 2006.

Alter BP: Inherited Forms of Aplastic Anemia: the Inherited Bone Marrow Failure Syndromes (IBMFS). In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 938-941.

Giri N, Alter BP: Acquired Aplastic Anemia. In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 942-944.

Bagby GC, Alter BP: Fanconi Anemia. Seminars in Hematology 43:147-156, 2006.

Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP: Mutations in the Reverse Transcriptase Component of Telomerase (TERT) in Patients with Bone Marrow Failure. Letter to the Editor. Blood Cells, Molecules, and Disease 37:134-136, 2006.

Hutson SP, Alter BP: Experiences of Siblings of Patients with Fanconi's Anemia. Pediatric Blood & Cancer 48:72-79, 2007.

Alter BP, Rosenberg PS, Brody L: Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Journal of Medical Genetics 44:1-9, 2007. PMCID: PMC2597904.

Tamary H and Alter BP: Current Diagnosis of Inherited Bone Marrow Failure Syndromes. Pediatric Hematology and Oncology 24:87-99, 2007.

Alter BP, Rosenberg PS: Letter to Blood: Granulocyte-colony stimulating factor and aplastic anemia. Blood 109:4589, 2007.

Giri N, Batista D, Alter BP, Stratakis CA: Endocrine Abnormalities in Patients with Fanconi Anemia. Journal of Clinical Endocrinology and Metabolism 92:2624-2631, 2007.

Alter BP, Baerlocher G, Savage SA, Chanock SJ, Weksler BB, Willner J, Peters JA, Giri N, Lansdorp PM: Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 110:1439-1447, 2007. PMCID: PMC1975834.

Giri N, Pitel PA, Green D, Alter BP: Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte-colony stimulating factor. British Journal of Haematology 138:815-817, 2007.

Alter BP: Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology (Am Soc Hematol Educ Program) 2007:29-39.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in Dyskeratosis Congenita. American Journal of Human Genetics 82:501-509, 2008. PMCID: PMC2427222.

Savage SA, Alter BP: The role of telomere biology in bone marrow failure and other disorders. Mechanisms of Aging and Development 129:35-47, 2008. PMCID: PMC2278290.

Rosenberg PS, Alter BP, Ebell W: Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia (GEFA) Registry. Haematologica 93:511-517, 2008.

Atkinson JC, Harvey KE, Domingo, DL, Trujillo MI, Guadagnini J-P, Gollins S, Giri N, Hart TC, Alter BP: Oral and Dental Phenotype of Dyskeratosis Congenita. Oral Diseases 14:419-427, 2008. PMCID: PMC3142998.

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, LeBlanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM, on behalf of the participants of the Sixth Annual Daniella Maria Arturi International Consensus Conference: Diagnosing and treating Diamond Blackfan Anaemia: Results of an international clinical consensus conference. British Journal of Haematology 142:859-876, 2008. PMCID: PMC2654478.

Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT: Bone marrow cell cycle markers in inherited bone marrow failure syndromes. Leukemia Research 32:1793-1799, 2008. PMCID: PMC2716700.

Denny CC, Alter BP, Giri N, Peters J, Wilfond BS: All in the Family: Disclosure of "Unwanted" Information to an Adolescent to Benefit a Relative. American Journal of Medical Genetics, Part A 146A:2719-2724, 2008. PMCID: PMC3143002.

Shimamura A, Alter BP: Inherited Aplastic Anemia Syndromes. In: Wintrobe's Clinical Hematology, 12th edition, JP Greer, J Foerster, JN Lukens, GM Rodgers, F Paraskevas, BE Glader, DA Arber, RT Means, eds, Lippincott Williams & Wilkins, Baltimore, 2009, pp 1173-1184.

Savage SA, Alter BP: Dyskeratosis congenita. Hematology/Oncology Clinics of North America 23:215-231, 2009. PMCID: PMC2702847.

Alter BP, Giri N, Savage SA, Rosenberg PS: Cancer in dyskeratosis congenita. Blood 113: 6549-6557, 2009. PMCID: PMC2710915.

Mason III JO, Yunker JJ, Nixon PA, Vail RS, Tsilou E, Giri N, Alter BP: Proliferative Retinopathy as a Complication of Aplastic Anemia and Dyskeratosis Congenita. Retinal Cases & Brief Reports 3:259-262, 2009.

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Waes CV, Wong JMY, Young NS, Alter BP: Meeting Report: Dyskeratosis congenita: The first NIH clinical research workshop. Pediatric Blood and Cancer 53:520-523, 2009. PMCID: PMC2739803.

Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP: Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 117:615-622, 2010. PMCID: PMC2830377.

Shimamura A, Alter BP: Pathophysiology and Management of Inherited Bone Marrow Failure Syndromes. Blood Reviews 24:101-122, 2010.

Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr A, Greene MH, Rosenberg PS: Malignancies and Survival Patterns in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort Study. British Journal of Haematology 150:179-188, 2010. PMCID: PMC3125983.

Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Vilk-Ravel SS, Bitan M, Kaplinsky C, Ben Barak A, Ronit Elhasid R, Kapelusnik J, Koren A, Levin C, Atias D, Laor R, Yaniv I, Rosenberg PS, Alter BP: Frequency and Natural History of Inherited Bone Marrow Failure Syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 95:1300-1307, 2010. PMCID: PMC2913078.

Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA: Telomere Length in Blood, Buccal Cells, and Fibroblasts from Patients with Inherited Bone Marrow Failure Syndromes. Aging 2:867-874, 2010. PMCID: PMC3006028.

Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE: Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes & Development 25:11-16, 2011. PMCID: PMC3012932.

Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP, Tolar J: Disease-specific Hematopoietic Cell Transplantation: Reduced Intensity Conditioning Regimen for Dyskeratosis Congenita. Bone Marrow Transplantation 46:98-104, 2011.

Alter BP, Kupfer G: Fanconi Anemia (February 2011). In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.

Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter BP: Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. Journal of Medical Genetics 48:285-288, 2011.

Rochowski A, Sun C, Glogauer M, Alter BP: Neutrophil Functions in Patients with Inherited Bone Marrow Failure Syndromes. Pediatric Blood and Cancer 57:306-309, 2011. PMCID: PMC3116953.

Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, Savage SA: Lung Transplantation for Pulmonary Fibrosis in Dyskeratosis Congenita: Case Report and Systematic Literature Review. BMC Blood Disorders. Jun 15;11(1):3, 2011. PMCID: PMC3141321.

Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE: Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature 474(7361): 399-402, 2011.

Rosenberg PS, Tamary H, Alter BP: How High are Carrier Frequencies of Rare Recessive Syndromes? Estimates for Fanconi Anemia in the United States and Israel. American Journal of Medical Genetics Part A 155:1877-1883. PMCID: PMC3140593.

Lipton JM, Alter BP: Fanconi Anemia. Medscape Reference. Updated July 26, 2011.